Ontology highlight
ABSTRACT:
SUBMITTER: Schlotawa L
PROVIDER: S-EPMC6718111 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Schlotawa Lars L Dierks Thomas T Christoph Sophie S Cloppenburg Eva E Ohlenbusch Andreas A Korenke G Christoph GC Gärtner Jutta J
JIMD reports 20190820 1
Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal storage disorder (LSD). Mutations in the <i>SUMF1</i> gene encoding the formylglycine generating enzyme (FGE) result in an unstable FGE protein with reduced enzymatic activity, thereby affecting the posttranslational activation of newly synthesized sulfatases. Complete absence of FGE function results in the most severe clinical form of MSD with neonatal onset and rapid deterioration. We report on a preterm infant presenting with hydr ...[more]